Canonical Allele Identifier: CA800319953
Gene: BMPR1B HGNC NCBI

Linked Data

dbSNP Id: rs1388570765
gnomAD v3: 4-94935562-CA-C
gnomAD v4: 4-94935562-CA-C
MyVariant Identifiers: chr4:g.95856714del (hg19) chr4:g.94935563del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935569del , CM000666.2:g.94935569del GRCh38
NC_000004.11:g.95856720del , CM000666.1:g.95856720del GRCh37
NC_000004.10:g.96075743del NCBI36
NG_009245.1:g.182593del

Transcript Alleles

HGVS Amino-acid change
ENST00000515059.6:c.-113+59669del MANE Select ENSP00000426617.1:n.-113+59669del
ENST00000515059.5:c.-113+59669del ENSP00000426617.1:n.-113+59669del
NM_001203.2:c.-113+59669del NP_001194.1:n.-113+59669del
XM_011532201.1:c.-18+59669del XP_011530503.1:n.-18+59669del
XM_011532201.2:c.-18+59669del XP_011530503.1:n.-18+59669del
XM_017008558.1:c.-113+59669del XP_016864047.1:n.-113+59669del
XM_017008559.1:c.-113+36519del XP_016864048.1:n.-113+36519del
NM_001203.3:c.-113+59669del MANE Select NP_001194.1:n.-113+59669del
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